Organic Acidaemia (disorder)
NCA021 - Inherited Metabolic Diseases Collection
Year Started: 2022
The Northern Care Alliance Research Collection (NCARC) includes a biobank to explore novel application of laboratory biomarkers in Inherited Metabolic Diseases. The collection population comprises patients with rare metabolic diseases such as Mucopolysaccharidosis, Alpha-Mannosidosis, Mucolipidosis, Pompe Disease, Fabry Disease, Gaucher Disease, Phenylketonuria, Urea Cycle Disorders, Organic Acidaemia, mitochondrial diseases and many others. The collection consists of whole blood, serum, plasma and citrate plasma samples as well as associated clinical data from both primary and secondary care settings. The collection allows scope for adjustment to the sample type through NCARC’s simple amendment process. This collection aims to promote biomedical research by providing biomaterial to academic and commercial researchers/partners to facilitate high-quality research in establishing prognostic markers of cardiovascular disease, bone health, renal disease and acute illness among rare diseases. There is potential to improve the method and time taken for diagnosis, prognostication and treatment monitoring with refinement of laboratory processing and biomarker discovery. Our biological samples have been processed and stored under conditions that reflect the current best practise to maximise the integrity and security of the samples and ensure compliance with current regulatory requirements. The biological samples collected will enable a number of different analyses to be performed. This may include (but not limited to): • Biomarker studies • Multi-morbidity studies • Biomedical device development
- Access:
- Open to applicants
- Type:
- Disease specific
- Status:
- In progress
- Consent restrictions:
- No restrictions
Associated Data Type | Procurement Timeframe |
---|---|
Clinical records | 0 - 3 months |
Followup records | 0 - 3 months |
Freezer temperature logs | 0 - 3 months |
Imaging data | 0 - 3 months |
Pathology records | 0 - 3 months |
Primary care records | 0 - 3 months |
Survey data | 0 - 3 months |
Treatment records | 0 - 3 months |
Warm ischemic time | 0 - 3 months |
Donor Ethnicity | 0 - 3 months |
Male
Adult (> 40 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Whole blood | -60°C to -85°C | Not applicable | 100% | ||
Serum | -60°C to -85°C | Not applicable | 100% | ||
Plasma | -60°C to -85°C | Not applicable | 100% | ||
Urine | -60°C to -85°C | Not applicable | 100% | ||
Swab | -60°C to -85°C | Not applicable | 100% | ||
Tissue specimen | -60°C to -85°C | Not applicable | 26 - 50% |
Female
Adult (> 40 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Whole blood | -60°C to -85°C | Not applicable | 100% | ||
Serum | -60°C to -85°C | Not applicable | 100% | ||
Plasma | -60°C to -85°C | Not applicable | 100% | ||
Urine | -60°C to -85°C | Not applicable | 100% | ||
Swab | -60°C to -85°C | Not applicable | 100% | ||
Tissue specimen | -60°C to -85°C | Not applicable | 26 - 50% |
Male
Young adult (18 - 40 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Whole blood | -60°C to -85°C | Not applicable | 100% | ||
Serum | -60°C to -85°C | Not applicable | 100% | ||
Plasma | -60°C to -85°C | Not applicable | 100% | ||
Urine | -60°C to -85°C | Not applicable | 100% | ||
Swab | -60°C to -85°C | Not applicable | 100% | ||
Tissue specimen | -60°C to -85°C | Not applicable | 26 - 50% |
Female
Young adult (18 - 40 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Whole blood | -60°C to -85°C | Not applicable | 100% | ||
Serum | -60°C to -85°C | Not applicable | 100% | ||
Plasma | -60°C to -85°C | Not applicable | 100% | ||
Urine | -60°C to -85°C | Not applicable | 100% | ||
Swab | -60°C to -85°C | Not applicable | 100% | ||
Tissue specimen | -60°C to -85°C | Not applicable | 26 - 50% |